Genetic testing for enhanced S-cone syndrome
نویسندگان
چکیده
منابع مشابه
Enhanced S cone syndrome: Evidence for an abnormally large number of S cones
The cellular basis of the hypersensitivity of the S (blue) cone system in patients with enhanced S cone syndrome was examined by analyzing ERGs from three patients. The patients had large alpha-waves in response to the blue and white flashes. These alpha-waves were shown to be driven nearly entirely by the S cones. Although these S cone alpha-waves were 4-6 times the size of the normal L/M cone...
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متن کاملVisual Psychophysics and Physiological Optics Vision in Observers With Enhanced S-Cone Syndrome: An Excess of S-Cones but Connected Mainly to Conventional S-Cone Pathways
Citation: Ripamonti C, Aboshiha J, Henning GB, et al. Vision in observers with enhanced S-cone syndrome: an excess of S-cones but connected mainly to conventional S-cone pathways. Invest Ophthalmol Vis Sci. 2014;55:963–976. DOI:10.1167/iovs. 13-12897 PURPOSE. The effect of increased numbers of S-cone photoreceptors in enhanced S-cone syndrome (ESCS) was investigated psychophysically in six ESCS...
متن کاملCorrection: A Hybrid Photoreceptor Expressing Both Rod and Cone Genes in a Mouse Model of Enhanced S-Cone Syndrome
Resequencing has shown that three clones used for making in situ hybridization (ISH) probes for this manuscript were initially misidentified (gene IDs from Figure 1: G17, G23, and G25). The correct identities of these clones are as follow: Glo1, Hnrpa1, and Dkk3, respectively. This finding led the authors to resynthesize and test all ten probes made in the batch which included these misidentifi...
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ژورنال
عنوان ژورنال: The EuroBiotech Journal
سال: 2017
ISSN: 2564-615X
DOI: 10.24190/issn2564-615x/2017/s1.15